MCID: LNG097
MIFTS: 30

Liang Distal Myopathy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Liang Distal Myopathy

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Aliases & Descriptions for Liang Distal Myopathy:

Name: Liang Distal Myopathy 50
Laing Early-Onset Distal Myopathy 22 46 23 24 52 68
Laing Distal Myopathy 22 46 23 24 68 12
Mpd1 24 52 68
Distal Myopathy Type 1 52 25
Myopathy, Distal, 1 50 68
 
Distal Myopathy 1 24 68
Myopathy Distal Early-Onset Autosomal Dominant 68
Myopathy Late Distal Hereditary 68
Welander Distal Myopathy 66
Myopathy Distal, Type 1 46
Gowers Disease 52

Characteristics:

Orphanet epidemiological data:

52
laing early-onset distal myopathy:
Inheritance: Autosomal dominant; Age of onset: Childhood

HPO:

62
liang distal myopathy:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset, slow progression, phenotypic variability, childhood onset


Classifications:



External Ids:

OMIM50 160500
Orphanet52 ORPHA59135
ICD10 via Orphanet29 G71.0
MedGen35 CN074249
MeSH37 D049310

Summaries for Liang Distal Myopathy

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NIH Rare Diseases:46 Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood.   early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. weakness in the feet leads to tightening of the achilles tendon, an inability to lift the big toe, and a high-stepping walk.  weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. as the muscle weakness slowly progresses over the course of many years, other muscles of the body (e.g., neck, face, legs, hips, and shoulders) weaken. most affected people remain mobile throughout life. life expectancy is normal. laing distal myopathy is caused by mutations in the myh7 gene and is inherited in an autosomal dominant fashion. last updated: 4/1/2011

MalaCards based summary: Liang Distal Myopathy, also known as laing early-onset distal myopathy, is related to myopathy and inclusion body myositis, and has symptoms including myalgia, gait, drop foot and high palate. An important gene associated with Liang Distal Myopathy is MYH7 (Myosin Heavy Chain 7). Affiliated tissues include skeletal muscle.

UniProtKB/Swiss-Prot:68 Myopathy, distal, 1: A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease.

Genetics Home Reference:24 Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. This weakness leads to tightening of the Achilles tendon (the band that connects the heel of the foot to the calf muscles), an inability to lift the first (big) toe, and a high-stepping walk. Months to years later, muscle weakness develops in the hands and wrists. Weakness in these muscles makes it difficult to lift the fingers, particularly the third and fourth fingers. Many affected people also experience hand tremors.

Description from OMIM:50 160500

GeneReviews summary for NBK1433

Related Diseases for Liang Distal Myopathy

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Diseases related to Liang Distal Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.3
2inclusion body myositis9.9
3myositis9.9
4myopathy, myosin storage, autosomal recessive9.6MYH7, SPPM
5dyskeratosis congenita, autosomal dominant 39.6MYH7, SPPM
6liang distal myopathy9.5MYH7, SPPM
7cardiomyopathy, familial hypertrophic9.5MYH7, SPPM
8glomerulosclerosis, focal segmental, 59.4MYH7, SPPM
9cardiomyopathy, dilated, 1e9.2MYH7, SPPM

Graphical network of diseases related to Liang Distal Myopathy:



Diseases related to liang distal myopathy

Symptoms for Liang Distal Myopathy

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Symptoms by clinical synopsis from OMIM:

160500

Clinical features from OMIM:

160500

HPO human phenotypes related to Liang Distal Myopathy:

(show all 18)
id Description Frequency HPO Source Accession
1 high palate HP:0000218
2 neck muscle weakness HP:0000467
3 gait disturbance HP:0001288
4 dilated cardiomyopathy HP:0001644
5 pes cavus HP:0001761
6 distal muscle weakness HP:0002460
7 scoliosis HP:0002650
8 ragged-red muscle fibers HP:0003200
9 elevated serum creatine phosphokinase HP:0003236
10 myalgia HP:0003326
11 emg HP:0003445
12 proximal muscle weakness HP:0003701
13 type 1 muscle fiber predominance HP:0003803
14 mildly elevated creatine phosphokinase HP:0008180
15 amyotrophy of ankle musculature HP:0009031
16 weakness of long finger extensor muscles HP:0009077
17 facial palsy HP:0010628
18 toe extensor amyotrophy HP:0011916

UMLS symptoms related to Liang Distal Myopathy:


myalgia, gait, drop foot

Drugs & Therapeutics for Liang Distal Myopathy

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Motion Analysis of Sit-to-Stand Movements in Children With Spastic DiplegiaNot yet recruitingNCT00314301

Search NIH Clinical Center for Liang Distal Myopathy

Genetic Tests for Liang Distal Myopathy

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Genetic tests related to Liang Distal Myopathy:

id Genetic test Affiliating Genes
1 Myopathy, Distal, 125
2 Laing Distal Myopathy23 MYH7

Anatomical Context for Liang Distal Myopathy

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MalaCards organs/tissues related to Liang Distal Myopathy:

34
Skeletal muscle

Animal Models for Liang Distal Myopathy or affiliated genes

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Publications for Liang Distal Myopathy

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Variations for Liang Distal Myopathy

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UniProtKB/Swiss-Prot genetic disease variations for Liang Distal Myopathy:

68
id Symbol AA change Variation ID SNP ID
1MYH7p.Arg1500ProVAR_022369rs121913647
2MYH7p.Ala1663ProVAR_022370
3MYH7p.Leu1706ProVAR_022371
4MYH7p.Thr441MetVAR_042785

Clinvar genetic disease variations for Liang Distal Myopathy:

5 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000257.3(MYH7): c.4499G> C (p.Arg1500Pro)single nucleotide variantPathogenicrs121913647GRCh37Chr 14, 23886382: 23886382
2MYH7NM_000257.3(MYH7): c.1322C> T (p.Thr441Met)single nucleotide variantPathogenicrs121913653GRCh37Chr 14, 23898249: 23898249
3NM_000257.3(MYH7): c.4442T> C (p.Leu1481Pro)single nucleotide variantPathogenicrs587779414GRCh37Chr 14, 23886439: 23886439
4NM_000257.3(MYH7): c.4622A> C (p.Gln1541Pro)single nucleotide variantPathogenicrs587779389GRCh37Chr 14, 23886099: 23886099
5NM_000257.3(MYH7): c.4795A> C (p.Thr1599Pro)single nucleotide variantPathogenicrs587779390GRCh37Chr 14, 23885371: 23885371
6NM_000257.3(MYH7): c.4823G> C (p.Arg1608Pro)single nucleotide variantPathogenicrs587779391GRCh37Chr 14, 23885343: 23885343
7NM_000257.3(MYH7): c.4835T> C (p.Leu1612Pro)single nucleotide variantPathogenicrs587779392GRCh37Chr 14, 23885331: 23885331
8NM_000257.3(MYH7): c.4937T> C (p.Leu1646Pro)single nucleotide variantPathogenicrs587779393GRCh37Chr 14, 23885229: 23885229
9NM_000257.3(MYH7): c.4985G> C (p.Arg1662Pro)single nucleotide variantPathogenicrs370328209GRCh37Chr 14, 23885010: 23885010
10NM_000257.3(MYH7): c.5005_5007delGAG (p.Glu1669del)deletionPathogenicrs587779394GRCh37Chr 14, 23884988: 23884990
11NM_000257.3(MYH7): c.5186_5188dupAGA (p.Lys1729_Met1730insLys)duplicationPathogenicrs587779395GRCh37Chr 14, 23884685: 23884687
12MYH7NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del)deletionPathogenicrs587779396GRCh37Chr 14, 23884383: 23884385
13NM_000257.3(MYH7): c.4906G> C (p.Ala1636Pro)single nucleotide variantPathogenicrs587779415GRCh37Chr 14, 23885260: 23885260
14NM_000257.3(MYH7): c.4850_4852delAGA (p.Lys1617del)deletionPathogenicrs121913648GRCh37Chr 14, 23885314: 23885316
15MYH7NM_000257.3(MYH7): c.5566G> A (p.Glu1856Lys)single nucleotide variantPathogenicrs797044598GRCh37Chr 14, 23883305: 23883305
16NM_000257.3(MYH7): c.4315G> C (p.Ala1439Pro)single nucleotide variantPathogenicrs797044599GRCh37Chr 14, 23886750: 23886750
17NM_000257.3(MYH7): c.4763G> C (p.Arg1588Pro)single nucleotide variantPathogenicrs797044600GRCh38Chr 14, 23416194: 23416194
18NM_000257.3(MYH7): c.4772T> C (p.Leu1591Pro)single nucleotide variantPathogenicrs730880808GRCh38Chr 14, 23416185: 23416185
19NM_000257.3(MYH7): c.4807G> C (p.Ala1603Pro)single nucleotide variantPathogenicrs730880809GRCh37Chr 14, 23885359: 23885359
20NM_000257.3(MYH7): c.4987G> C (p.Ala1663Pro)single nucleotide variantPathogenicrs797044601GRCh38Chr 14, 23415799: 23415799
21NM_000257.3(MYH7): c.5117T> C (p.Leu1706Pro)single nucleotide variantPathogenicrs797044602GRCh37Chr 14, 23884878: 23884878
22MYH7NM_000257.3(MYH7): c.1544T> C (p.Met515Thr)single nucleotide variantLikely pathogenicrs863224900GRCh37Chr 14, 23897743: 23897743
23NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del)deletionPathogenicrs367543052GRCh37Chr 14, 23884685: 23884687
24NM_000257.3(MYH7): c.4522_4524delGAG (p.Glu1508del)deletionPathogenicrs397516220GRCh37Chr 14, 23886197: 23886199
25MYH7NM_000257.3(MYH7): c.5401G> A (p.Glu1801Lys)single nucleotide variantLikely pathogenic, Pathogenicrs397516248GRCh37Chr 14, 23884362: 23884362
26MYH7NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys)single nucleotide variantPathogenicrs397516254GRCh37Chr 14, 23883018: 23883018

Expression for genes affiliated with Liang Distal Myopathy

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Search GEO for disease gene expression data for Liang Distal Myopathy.

Pathways for genes affiliated with Liang Distal Myopathy

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GO Terms for genes affiliated with Liang Distal Myopathy

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Sources for Liang Distal Myopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet